Biology and Genetics

Characteristics of living organisms: cell theory; cell study methods; prokaryotic cells; eukaryotic cells; hierarchical organization in biology; evolution of organisms.
· Characteristics of biological marcomolecules: lipids, nucleic acids and proteins.
· Structure and organization of the eukaryotic cell: cell compartmentalization; cell organelles; ribosomes; cytoskeleton; junctions; matrix.
· Structure and function of biological membranes: fluid mosaic model; transport through the membrane.
· Cellular communication: communication mode between cells.
· Cell cycle and its regulation: cycle phases; control system.
· DNA replication: central dogma of biology; Meselson and Stahl experiment; molecular replication; DNA damage repair.
Transcription: various types of RNA; synthesis of RNA; maturation of messenger RNAs.
· Translation and genetic code: genetic code and its properties; protein synthesis mechanism; post-synthetic fate of proteins.
· The genome of eukaryotes: structure of chromatin; the nucleosome; gene structure (intron-exons); control of gene expression.
· Virus: structure; bacterial, animal and plant viruses; cell-virus interactions

· Molecular basis of heredity: genes, chromosomes; somatic and germ cells; karyotype and ploidy; mitosis and meiosis; gametogenesis and fertilization; sex determination
· Mendelian genetics: gene, allele, locus; Mendel's laws; genotype and phenotype; interactions between alleles; multiple allelism (ABO)
· Traits and Inheritance: pedigrees; autosomal dominant, autosomal recessive and sex-linked inheritance; monofactorial diseases; mitochondrial inheritance; multifactorial inheritance
· Genetic, chromosomal and genomic mutations: point mutations, deletions, duplications, inversions, translocations; X-inactivation; polyploidies, aneuploidies; main aneuploidies of autosomes and sex chromosomes in humans; genomic diseases.
· Prenatal diagnosis: amniocentesis, villocentesis; non-invasive diagnosis

· Main indications for requesting the laboratory tests; types of biological samples with particular attention to blood sample; main sources of pre-analytical variability: patient preparation, specimen collection, storage and treatment; acceptability criteria of a biological sample.
· Types of laboratory exams; variability of laboratory results: biological and analytical variability; reliability of analytical methods: concepts of precision and trueness; types of errors; validation of the results: procedures of quality control.
· Interpretation of the results: reference intervals; decisional limits; critical difference; the medical report; criteria of diagnostic utility: diagnostic specificity and sensibility, prediction values.
· Biochemical-clinical aspects concerning the measurement of hemoglobin concentration in blood; total blood count test; laboratory tests useful for the evaluation of the iron metabolism alterations.
· Laboratory diagnosis and management of diabetes mellitus.
· Laboratory role in the evaluation of the disorders of lipids and lipoproteins.
· Laboratory markers of kidney function; urine test.
· Laboratory markers of liver disease; electrophoresis of serum proteins.